Allele Registry

Canonical Allele Identifier: PA113344

Gene: GJB2 HGNC NCBI

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000018541

RCV000080369

RCV000146013

RCV000211772

RCV000409625

RCV000515450

RCV000678875

RCV001004391

RCV001109788

RCV001257157

RCV001775068

RCV002227041

RCV003224102

ClinVar Variation:

17016

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_003995.2:p.Leu90Pro	CA172219 NM_004004.6:c.269T>C